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KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations.
Al Dhaheri N, Wu N, Zhao S, Wu Z, Blank RD, Zhang J, Raggio C, Halanski M, Shen J, Noonan K, Qiu G, Nemeth B, Sund S, Dunwoodie SL, Chapman G, Glurich I, Steiner RD, Wohler E, Martin R, Sobreira NL, Giampietro PF. Al Dhaheri N, et al. Among authors: giampietro pf. Am J Med Genet A. 2020 Jul;182(7):1664-1672. doi: 10.1002/ajmg.a.61607. Epub 2020 May 5. Am J Med Genet A. 2020. PMID: 32369272 Free PMC article.
DLL3 as a candidate gene for vertebral malformations.
Giampietro PF, Raggio CL, Reynolds C, Ghebranious N, Burmester JK, Glurich I, Rasmussen K, McPherson E, Pauli RM, Shukla SK, Merchant S, Jacobsen FS, Faciszewski T, Blank RD. Giampietro PF, et al. Am J Med Genet A. 2006 Nov 15;140(22):2447-53. doi: 10.1002/ajmg.a.31509. Am J Med Genet A. 2006. PMID: 17041936
Heterozygous mutations in the T (brachyury) gene.
Giampietro PF, Raggio CL, Blank RD. Giampietro PF, et al. J Med Genet. 2014 May;51(5):354. doi: 10.1136/jmedgenet-2014-102308. Epub 2014 Feb 20. J Med Genet. 2014. PMID: 24556085 No abstract available.
Evaluation of SLC35A3 as a candidate gene for human vertebral malformations.
Ghebranious N, Burmester JK, Glurich I, McPherson E, Ivacic L, Kislow J, Rasmussen K, Kumar V, Raggio CL, Blank RD, Jacobsen FS, Faciszewski T, Womack J, Giampietro PF. Ghebranious N, et al. Among authors: giampietro pf. Am J Med Genet A. 2006 Jun 15;140(12):1346-8. doi: 10.1002/ajmg.a.31307. Am J Med Genet A. 2006. PMID: 16691598 No abstract available.
Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
Giampietro PF, Armstrong L, Stoddard A, Blank RD, Livingston J, Raggio CL, Rasmussen K, Pickart M, Lorier R, Turner A, Sund S, Sobrera N, Neptune E, Sweetser D, Santiago-Cornier A, Broeckel U. Giampietro PF, et al. Am J Med Genet A. 2015 Jan;167A(1):95-102. doi: 10.1002/ajmg.a.36799. Epub 2014 Oct 27. Am J Med Genet A. 2015. PMID: 25348728
Progress and perspective of TBX6 gene in congenital vertebral malformations.
Chen W, Liu J, Yuan D, Zuo Y, Liu Z, Liu S, Zhu Q, Qiu G, Huang S, Giampietro PF, Zhang F, Wu N, Wu Z. Chen W, et al. Among authors: giampietro pf. Oncotarget. 2016 Aug 30;7(35):57430-57441. doi: 10.18632/oncotarget.10619. Oncotarget. 2016. PMID: 27437870 Free PMC article. Review.
Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16-18, 2017, Dallas, Texas.
Giampietro PF, Pourquie O, Raggio C, Ikegawa S, Turnpenny PD, Gray R, Dunwoodie SL, Gurnett CA, Alman B, Cheung K, Kusumi K, Hadley-Miller N, Wise CA. Giampietro PF, et al. Am J Med Genet A. 2018 Jan;176(1):253-256. doi: 10.1002/ajmg.a.38550. Epub 2017 Nov 21. Am J Med Genet A. 2018. PMID: 29159998 Free PMC article.
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.
Liu J, Wu N; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Yang N, Takeda K, Chen W, Li W, Du R, Liu S, Zhou Y, Zhang L, Liu Z, Zuo Y, Zhao S, Blank R, Pehlivan D, Dong S, Zhang J, Shen J, Si N, Wang Y, Liu G, Li S, Zhao Y, Zhao H, Chen Y, Zhao Y, Song X, Hu J, Lin M, Tian Y, Yuan B, Yu K, Niu Y, Yu B, Li X, Chen J, Yan Z, Zhu Q, Meng X, Chen X, Su J, Zhao X, Wang X, Ming Y, Li X, Raggio CL, Zhang B, Weng X, Zhang S, Zhang X, Watanabe K, Matsumoto M; Japan Early Onset Scoliosis Research Group; Jin L, Shen Y, Sobreira NL, Posey JE, Giampietro PF, Valle D; Baylor-Hopkins Center for Mendelian Genomics; Liu P, Wu Z, Ikegawa S, Lupski JR, Zhang F, Qiu G. Liu J, et al. Among authors: giampietro pf. Genet Med. 2019 Jul;21(7):1548-1558. doi: 10.1038/s41436-018-0377-x. Epub 2019 Jan 14. Genet Med. 2019. PMID: 30636772 Free PMC article.
120 results